Endocrine Abstracts

Congenital adrenal hyperplasia (CAH), with an autosomal recessive inheritance, is characterized by impaired or absent activity of one of the enzymes required for the biosynthesis of cortisol. In about 95%, CAH is due to mutations in the 21-hydroxylase gen (CYP21) and the lack of 21-hydroxylase results in a deficiency of cortisol, often also aldosterone and excess of androgens. The prenatal exposure of androgens virilise the female foetus in varying degrees depending on the lev...